ORPHA:69077
Rhabdoid tumor
Synonyms: Malignant rhabdoid tumor
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor (ATRT).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rhabdoid tumor | Malignant rhabdoid tumor |
| fr | Tumeur rhabdoïde | Tumeur rhabdoïde maligne |
| de | Rhabdoidtumor | Tumor, maligner rhabdoider |
| es | Tumor rabdoide | Tumor rabdoide maligno |
| it | Tumore rabdoide | Tumore rabdoide maligno |
| nl | Rhabdoïde tumor | Maligne rhabdoïde tumor |
| pt | Tumores rabdóides | Tumores rabdóides malignos |
| pl | Guz rabdoidalny | Złośliwy guz rabdoidalny |
| cs | Rhabdoidní tumor | Maligní rhabdoidní tumor |
| uk | Рабдоїдна пухлина | Злоякісна рабдоїдна пухлина |
| zh | 杆状瘤 | 恶性横纹肌样瘤 |
| tr | Rabdoid tümör | Habis rabdoid tümör |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609322 | BTNT | validated | |
| OMIM | 613325 | BTNT | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2B5K | NTBT | attributed | validated |
| ICD-11 | XH3RF3 | E | specific | validated |
| MONDO | 0002728 | E | validated | |
| MeSH | D018335 | E | validated | |
| UMLS | C0206743 | E | validated | |
| GARD | 7572 | E | validated | |
| MedDRA | 10073334 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0100021 | Cerebral palsy | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0000790 | Hematuria | |
| HP:0000822 | Hypertension | |
| HP:0011029 | Internal hemorrhage | |
| HP:0000737 | Irritability | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002017 | Nausea and vomiting | |
| HP:0100006 | Neoplasm of the central nervous system | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0004396 | Poor appetite | |
| HP:0009726 | Renal neoplasm | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0100242 | Sarcoma | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0002301 | Hemiplegia | |
| HP:0003072 | Hypercalcemia | |
| HP:0001873 | Thrombocytopenia | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69077
- This record as JSON: /data/d/69077.json